Variant report

Variant	esv14830
Chromosome Location	chr6:74610209-74646506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:
2	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:

Extended variants
information (count: 803 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148226581	chr6:74610427-74610428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs1898483	chr6:74610429-74610430	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561932711	chr6:74610468-74610469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147030659	chr6:74610563-74610564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140060492	chr6:74610632-74610633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4315970	chr6:74610677-74610678	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568518331	chr6:74610710-74610711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544967911	chr6:74610731-74610732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551407512	chr6:74610748-74610749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs146927651	chr6:74610769-74610770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537015099	chr6:74610775-74610776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113106852	chr6:74610794-74610795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs35096697	chr6:74610804-74610805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574022256	chr6:74610814-74610815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371443221	chr6:74610841-74610842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs3005517	chr6:74610844-74610845	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72963253	chr6:74610858-74610859	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566350961	chr6:74610871-74610872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs545176284	chr6:74610877-74610878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs563777447	chr6:74610886-74610887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs3012574	chr6:74610890-74610891	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187993686	chr6:74610931-74610932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561260873	chr6:74610939-74610940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559249627	chr6:74610955-74610956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529241844	chr6:74610962-74610963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373311037	chr6:74610965-74610966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs575692257	chr6:74610967-74610968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544949522	chr6:74610972-74610973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565462845	chr6:74610979-74610980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541284479	chr6:74610992-74610993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369817158	chr6:74610995-74610996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143724999	chr6:74611024-74611025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533120128	chr6:74611033-74611034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs3005519	chr6:74611047-74611048	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569765600	chr6:74611073-74611074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs3012575	chr6:74611114-74611115	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116013419	chr6:74611120-74611121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs72963261	chr6:74611122-74611123	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12215629	chr6:74611136-74611137	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571771367	chr6:74611151-74611152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573801296	chr6:74611195-74611196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35185445	chr6:74612666-74612667	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7760087	chr6:74612675-74612676	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111426116	chr6:74612687-74612688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146879867	chr6:74612704-74612705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs140537190	chr6:74612717-74612718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs7760110	chr6:74612718-74612719	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150040330	chr6:74612745-74612746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs3012578	chr6:74612746-74612747	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs180949625	chr6:74612753-74612754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74610400-74610800	ZNF genes & repeats	Gastric	stomach
2	chr6:74610600-74611200	ZNF genes & repeats	Placenta	Placenta
3	chr6:74610600-74611200	ZNF genes & repeats	Pancreas	Pancrea
4	chr6:74612600-74613400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:74612800-74613200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:74612800-74613400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:74613400-74619400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:74616000-74619400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:74619400-74620000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:74619400-74620200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:74619600-74620000	ZNF genes & repeats	Gastric	stomach
12	chr6:74633600-74634200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:74633600-74635000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:74633800-74634200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:74634000-74634400	Enhancers	Colon Smooth Muscle	Colon
16	chr6:74634200-74634400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:74636800-74637000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:74636800-74637000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:74637000-74638800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:74638800-74639400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:74638800-74639800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:74638800-74639800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:74638800-74640000	Enhancers	HMEC	breast
24	chr6:74639000-74639200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:74639000-74639400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:74639000-74639800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:74639000-74639800	Enhancers	NHEK	skin
28	chr6:74639000-74640000	Enhancers	Hela-S3	cervix
29	chr6:74639200-74639600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:74642200-74643000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:74642400-74643000	Enhancers	Fetal Brain Female	brain
32	chr6:74642600-74643200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:74642800-74643200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:74642800-74643200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:74642800-74643200	Enhancers	Colon Smooth Muscle	Colon
36	chr6:74642800-74643200	Enhancers	Fetal Brain Male	brain
37	chr6:74642800-74643200	Enhancers	Fetal Muscle Leg	muscle
38	chr6:74642800-74643200	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:74643200-74647200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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